A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697596



Internal ID14716457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49533905..49536003hg38UCSC Ensembl
InnerchrX:49534905..49535003hg38UCSC Ensembl
OuterchrX:49532905..49537003hg38UCSC Ensembl
chrX:49298508..49300606hg19UCSC Ensembl
InnerchrX:49299508..49299606hg19UCSC Ensembl
OuterchrX:49297508..49301606hg19UCSC Ensembl
chrX:49185452..49187550hg18UCSC Ensembl
InnerchrX:49186452..49186550hg18UCSC Ensembl
OuterchrX:49184452..49188550hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3446455
Supporting Variants
SamplesNA19239
Known GenesGAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12G, GAGE12H, GAGE2A, GAGE2E, GAGE8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697596
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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